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Q68CQ7 (GL8D1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 73. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Glycosyltransferase 8 domain-containing protein 1

EC=2.4.1.-
Gene names
Name:GLT8D1
Synonyms:GALA4A
ORF Names:AD-017, MSTP137, UNQ572/PRO1134
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length371 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Subcellular location

Membrane; Single-pass type II membrane protein Potential.

Sequence similarities

Belongs to the glycosyltransferase 8 family.

Sequence caution

The sequence AAQ13652.1 differs from that shown. Reason: Frameshift at positions 26, 52, 66, 75, 85, 300, 309, 315, 317 and 349.

Ontologies

Keywords
   Cellular componentMembrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainSignal-anchor
Transmembrane
Transmembrane helix
   Molecular functionGlycosyltransferase
Transferase
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentintegral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

   Molecular_functiontransferase activity, transferring glycosyl groups

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q68CQ7-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q68CQ7-2)

The sequence of this isoform differs from the canonical sequence as follows:
     216-259: YNYIGYLDYK...LTEWKRQNIT → VNCLPNTPLP...FIPNLKPAFL
     260-371: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 371371Glycosyltransferase 8 domain-containing protein 1
PRO_0000288528

Regions

Topological domain1 – 77Cytoplasmic Potential
Transmembrane8 – 2821Helical; Signal-anchor for type II membrane protein; Potential
Topological domain29 – 371343Lumenal Potential

Amino acid modifications

Glycosylation2491N-linked (GlcNAc...) Ref.8
Glycosylation2571N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence216 – 25944YNYIG…RQNIT → VNCLPNTPLPTILFNGKRLQ IQGTLLLQFTLPNHFIPNLK PAFL in isoform 2.
VSP_025705
Alternative sequence260 – 371112Missing in isoform 2.
VSP_025706
Natural variant2101R → H. Ref.7
Corresponds to variant rs2276812 [ dbSNP | Ensembl ].
VAR_032443

Experimental info

Sequence conflict501F → C in AAQ13652. Ref.7
Sequence conflict2011D → G in CAH18681. Ref.5
Sequence conflict3011P → L in AAQ13652. Ref.7
Sequence conflict3491W → G in AAQ13652. Ref.7

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 29, 2007. Version 2.
Checksum: 43492FB4E678F3D0

FASTA37141,935
        10         20         30         40         50         60 
MSFRKVNIII LVLAVALFLL VLHHNFLSLS SLLRNEVTDS GIVGPQPIDF VPNALRHAVD 

        70         80         90        100        110        120 
GRQEEIPVVI AASEDRLGGA IAAINSIQHN TRSNVIFYIV TLNNTADHLR SWLNSDSLKS 

       130        140        150        160        170        180 
IRYKIVNFDP KLLEGKVKED PDQGESMKPL TFARFYLPIL VPSAKKAIYM DDDVIVQGDI 

       190        200        210        220        230        240 
LALYNTALKP GHAAAFSEDC DSASTKVVIR GAGNQYNYIG YLDYKKERIR KLSMKASTCS 

       250        260        270        280        290        300 
FNPGVFVANL TEWKRQNITN QLEKWMKLNV EEGLYSRTLA GSITTPPLLI VFYQQHSTID 

       310        320        330        340        350        360 
PMWNVRHLGS SAGKRYSPQF VKAAKLLHWN GHLKPWGRTA SYTDVWEKWY IPDPTGKFNL 

       370 
IRRYTEISNI K 

« Hide

Isoform 2 [UniParc].

Checksum: EF8FB0768DA499AC
Show »

FASTA25928,544

References

« Hide 'large scale' references
[1]"gala4a, glycosyltransferase."
Steffensen R., Bennett E.P.
Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]"Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning."
Hu R.-M., Han Z.-G., Song H.-D., Peng Y.-D., Huang Q.-H., Ren S.-X., Gu Y.-J., Huang C.-H., Li Y.-B., Jiang C.-L., Fu G., Zhang Q.-H., Gu B.-W., Dai M., Mao Y.-F., Gao G.-F., Rong R., Ye M. expand/collapse author list , Zhou J., Xu S.-H., Gu J., Shi J.-X., Jin W.-R., Zhang C.-K., Wu T.-M., Huang G.-Y., Chen Z., Chen M.-D., Chen J.-L.
Proc. Natl. Acad. Sci. U.S.A. 97:9543-9548(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Adrenal gland.
[3]"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.
Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[4]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
Tissue: Ovary and Teratocarcinoma.
[5]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Fetus.
[6]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[7]Sheng H., Qin B.M., Liu Y.Q., Zhao B., Liu B., Wang X.Y., Hui R.T.
Submitted (AUG-1999) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT HIS-210.
Tissue: Aorta.
[8]"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-249.
Tissue: Liver.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AJ271710 mRNA. Translation: CAC19666.1.
AF157318 mRNA. Translation: AAF67484.1.
AY358579 mRNA. Translation: AAQ88942.1.
AK027517 mRNA. Translation: BAB55170.1.
AK075031 mRNA. Translation: BAC11363.1.
CR749821 mRNA. Translation: CAH18681.1.
BC119670 mRNA. Translation: AAI19671.1.
BC119671 mRNA. Translation: AAI19672.1.
AF175227 mRNA. Translation: AAQ13652.1. Frameshift.
RefSeqNP_001010983.1. NM_001010983.2.
NP_001265209.1. NM_001278280.1.
NP_001265210.1. NM_001278281.1.
NP_060916.1. NM_018446.3.
NP_690909.1. NM_152932.2.
UniGeneHs.297304.

3D structure databases

ProteinModelPortalQ68CQ7.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120935. 1 interaction.
STRING9606.ENSP00000266014.

Protein family/group databases

CAZyGT8. Glycosyltransferase Family 8.

PTM databases

PhosphoSiteQ68CQ7.

Polymorphism databases

DMDM152125896.

Proteomic databases

PaxDbQ68CQ7.
PRIDEQ68CQ7.

Protocols and materials databases

DNASU55830.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000266014; ENSP00000266014; ENSG00000016864. [Q68CQ7-1]
ENST00000394783; ENSP00000378263; ENSG00000016864. [Q68CQ7-1]
ENST00000407584; ENSP00000385730; ENSG00000016864. [Q68CQ7-1]
ENST00000478968; ENSP00000419612; ENSG00000016864. [Q68CQ7-1]
ENST00000491606; ENSP00000418853; ENSG00000016864. [Q68CQ7-1]
GeneID55830.
KEGGhsa:55830.
UCSCuc003dfi.4. human. [Q68CQ7-1]

Organism-specific databases

CTD55830.
GeneCardsGC03M052704.
HGNCHGNC:24870. GLT8D1.
HPAHPA010588.
neXtProtNX_Q68CQ7.
PharmGKBPA134947079.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG74598.
HOGENOMHOG000112730.
HOVERGENHBG055240.
InParanoidQ68CQ7.
OMAINSIQHN.
OrthoDBEOG7RBZ8R.
PhylomeDBQ68CQ7.
TreeFamTF332433.

Gene expression databases

ArrayExpressQ68CQ7.
BgeeQ68CQ7.
CleanExHS_GLT8D1.
GenevestigatorQ68CQ7.

Family and domain databases

InterProIPR002495. Glyco_trans_8.
[Graphical view]
PfamPF01501. Glyco_transf_8. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSGLT8D1. human.
GenomeRNAi55830.
NextBio61037.
PROQ68CQ7.

Entry information

Entry nameGL8D1_HUMAN
AccessionPrimary (citable) accession number: Q68CQ7
Secondary accession number(s): Q7Z4D1, Q8N2J6, Q9P0I5
Entry history
Integrated into UniProtKB/Swiss-Prot: May 29, 2007
Last sequence update: May 29, 2007
Last modified: April 16, 2014
This is version 73 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM